Gene

recql4

ID
ZDB-GENE-091112-2
Name
RecQ helicase-like 4
Symbol
recql4 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Predicted to have ATP binding activity; nucleic acid binding activity; and zinc ion binding activity. Human ortholog(s) of this gene implicated in Baller-Gerold syndrome; Rothmund-Thomson syndrome; and rapadilino syndrome. Orthologous to human RECQL4 (RecQ like helicase 4).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With recql4 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Baller-Gerold syndrome Alliance Baller-Gerold syndrome 218600
rapadilino syndrome Alliance RAPADILINO syndrome 266280
Rothmund-Thomson syndrome Alliance Rothmund-Thomson syndrome, type 2 268400
Associated With recql4 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001650 Helicase, C-terminal domain-like
Domain IPR001878 Zinc finger, CCHC-type
Domain IPR011545 DEAD/DEAH box helicase domain
Domain IPR014001 Helicase superfamily 1/2, ATP-binding domain
Family IPR021110 DNA replication/checkpoint protein
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036875 Zinc finger, CCHC-type superfamily
Domain Details Per Protein
Protein Length DEAD/DEAH box helicase domain DNA replication/checkpoint protein Helicase, C-terminal domain-like Helicase superfamily 1/2, ATP-binding domain P-loop containing nucleoside triphosphate hydrolase Zinc finger, CCHC-type Zinc finger, CCHC-type superfamily
UniProtKB:E7F8R0
UniProtKB:E7F2M7 1459
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA recql4-201 (1) Ensembl 5,578 nt
mRNA recql4-202 (1) Ensembl 8,798 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations